Canonical Allele Identifier: CA372253417
Gene: TG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.133133582C>A , CM000670.2:g.133133582C>A GRCh38
NC_000008.10:g.134145826C>A , CM000670.1:g.134145826C>A GRCh37
NC_000008.9:g.134215008C>A NCBI36
NG_015832.1:g.271622C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220616.9:c.8110C>A MANE Select ENSP00000220616.4:p.Leu2704Ile
ENST00000220616.8:c.8110C>A ENSP00000220616.4:p.Leu2704Ile
ENST00000519178.5:c.3476C>A
ENST00000519543.5:c.2509C>A ENSP00000430430.1:p.Leu837Ile
ENST00000521107.1:c.322C>A ENSP00000430161.1:p.Leu108Ile
ENST00000522691.1:n.196C>A
ENST00000523756.5:c.4765C>A
NM_003235.4:c.8110C>A NP_003226.4:p.Leu2704Ile
XM_005251038.3:c.7918C>A XP_005251095.1:p.Leu2640Ile
XM_006716622.2:c.8047C>A XP_006716685.1:p.Leu2683Ile
XM_005251038.4:c.7918C>A XP_005251095.1:p.Leu2640Ile
XM_006716622.3:c.8047C>A XP_006716685.1:p.Leu2683Ile
XM_017013793.1:c.8044C>A XP_016869282.1:p.Leu2682Ile
XM_017013794.1:c.7975C>A XP_016869283.1:p.Leu2659Ile
XM_017013795.1:c.7939C>A XP_016869284.1:p.Leu2647Ile
XM_017013796.1:c.7891C>A XP_016869285.1:p.Leu2631Ile
XM_017013797.1:c.7849C>A XP_016869286.1:p.Leu2617Ile
NM_003235.5:c.8110C>A MANE Select NP_003226.4:p.Leu2704Ile